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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
RBP3
Variant:
p.S1118fs
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RBP3
NM_002900.3:p.S1118fs
hg38:chr10:47355482 TCT>N
Frequencies & domains
Associated Papers
De-novo "germline second hit" loss-of-heterozygosity RBP3 deletion mutation causing recessive high myopia.
Gombosh M et al.
Clinical Genetics,
2023
37308324 (PubMed
)
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